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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: harvengt j. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.
Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours.
Lumaka A, Fasquelle C, Debray FG, Alkan S, Jacquinet A, Harvengt J, Boemer F, Mulder A, Vaessen S, Viellevoye R, Palmeira L, Charloteaux B, Brysse A, Bulk S, Rigo V, Bours V. Lumaka A, et al. Among authors: harvengt j. Int J Mol Sci. 2023 Feb 16;24(4):4003. doi: 10.3390/ijms24044003. Int J Mol Sci. 2023. PMID: 36835410 Free PMC article.
[Heredity and cancer].
Docampo E, Martin M, Gangolf M, Harvengt J, Bulk S, Segers K, Leroi N, Lete C, Palmariciotti V, Freire Chadrina V, Lambert F, Bours V. Docampo E, et al. Among authors: harvengt j. Rev Med Liege. 2021 May;76(5-6):327-336. Rev Med Liege. 2021. PMID: 34080359 Free article. French.
ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge.
Desse B, Tran A, Butori M, Marchal S, Afanetti M, Barthélemy S, Bérard E, Baechler E, Debelleix S, Lampin ME, Macey J, Massenavette B, Harvengt J, Trang H, Giovannini-Chami L. Desse B, et al. Among authors: harvengt j. Front Pediatr. 2022 Aug 31;10:910099. doi: 10.3389/fped.2022.910099. eCollection 2022. Front Pediatr. 2022. PMID: 36120648 Free PMC article.
13 results